A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv815906



Internal ID16109862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:78598658..78603384hg38UCSC Ensembl
Innerchr13:79172793..79177519hg19UCSC Ensembl
Innerchr13:78070794..78075520hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg384727
hg194727
hg184727
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv562410
Supporting Variants
Samples
Known GenesPOU4F1, RNF219-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv815906
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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